key papersKey paper
ARID1A mutations in endometriosis-associated ovarian carcinomas
This study found that about half of ovarian clear cell carcinomas and a third of endometrioid carcinomas carry inactivating mutations in ARID1A, a chromatin remodelling gene, linking these endometriosis-associated cancers to a common driver.
Overview
Sequencing study identifying truncating ARID1A mutations in 46 percent of ovarian clear cell carcinomas and 30 percent of endometrioid carcinomas but not in high-grade serous carcinoma, with loss of the BAF250a protein in mutated tumours and evidence of the mutation in adjacent endometriosis.
Translational studyChanged practice
Authors
Wiegand KC, Shah SP, Al-Agha OM, et al.
Published
Findings
- ARID1A mutations in 46 percent of clear cell and 30 percent of endometrioid ovarian carcinomas.
- No ARID1A mutations in high-grade serous carcinoma.
What it means
ARID1A loss defines the biology of clear cell ovarian cancer and is the target of current trials of synthetic-lethal drugs such as ATR and EZH2 inhibitors.
Caveats
- No ARID1A-directed therapy has yet been approved.